Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.
Synonyms: Dihydrolipoamide dehydrogenase deficiency E3-deficient maple syrup urine disease DLD deficiency
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Term information
database cross reference
- OMIM:246900 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E74.4 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
- ICD-10:E74.4 (Attributed (The ICD10 code is attributed by Orphanet))
Term relations
Subclass of:
- clinical subtype
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- part_of some Lipoic acid biosynthesis defect
- part_of some Mitochondrial myopathy
- part_of some Pyruvate dehydrogenase deficiency
- has_inheritance some autosomal recessive
- has_age_of_onset some childhood
- present_in some Worldwide and has_cases/families_value value 20.0